Perplexed by PGx? Exploring the impact of pharmacogenomic results on medical management, disclosures and patient behavior.

Pharmacogenomic (PGx) tests represent significant advances in precision medicine. Our aim was to explore perceptions following the return of PGx results, medication management, and disclosure to providers. We surveyed clients who had PGx testing and conducted a chart review of PGx results. Respectively, 84% and 94% of participants found pre- and post-test genetic counseling helpful. There was a significant difference in disclosure, while 6% disclosed results to a pharmacist, 50% disclosed to a physician. Qualitative analysis identified three themes: 1) psychological response; 2) perceived utility; 3) experiences with disclosure. Our study supports the provision of genetic counseling for a non-disease related genetic test. Benefits of PGx testing can be optimized by the collaboration of physicians, pharmacists, genetic counselors and patients.

Urinary levels of phthalate metabolites and cardiovascular disease mortality (NHANES, 1999-2008).

BACKGROUND: Mechanistic data and results from a limited number of cross-sectional epidemiologic studies have suggested a possible link between phthalates and adverse cardiovascular outcomes. OBJECTIVE: To evaluate the association between urinary levels of eight phthalate metabolites and subsequent risk of cardiovascular death in a prospective cohort analysis. METHODS: We identified 5080 individuals 40 years or older who participated in the continuous National Health and Nutrition Examination Survey (NHANES) from 1999 to 2008 and who had measured phthalate levels available. We a priori excluded individuals in later cycles of NHANES with measured phthalates so as to have the potential of at least three years of follow-up time on all members of the cohort. Questionnaire, exam and laboratory data were merged with a public access NHANES mortality file updated through December 31, 2011. The associations between cardiovascular death and quartile levels of the phthalate metabolites were investigated using Cox proportional hazard models. RESULTS: There were 175 deaths due to cardiovascular disease deaths over a mean of 7.0 years of follow-up. No association between cardiovascular disease mortality and individual urinary phthalate metabolites was observed. After adjustments, hazard ratios comparing the highest to lowest quartile ranged from 0.73 (95%CI: 0.5-1.2) for mono-ethyl phthalate [MEP] to 1.4 (95%CI:0.8-2.5) for mono-(2-ethyl-5-hydroxyhexyl) phthalate [MEHHP]. CONCLUSIONS: Urinary levels of phthalate metabolites were not associated with increased cardiovascular disease mortality. Additional larger cohort studies with longer follow-up focused on cardiovascular disease incidence are needed.

The Relationship Between Burnout and Occupational Stress in Genetic Counselors.

Burnout represents a critical disruption in an individual's relationship with work, resulting in a state of exhaustion in which one's occupational value and capacity to perform are questioned. Burnout can negatively affect an individual's personal life, as well as employers in terms of decreased work quality, patient/client satisfaction, and employee retention. Occupational stress is a known contributor to burnout and occurs as a result of employment requirements and factors intrinsic to the work environment. Empirical research examining genetic counselor-specific burnout is limited; however, existing data suggests that genetic counselors are at increased risk for burnout. To investigate the relationship between occupational stress and burnout in genetic counselors, we administered an online survey to members of three genetic counselor professional organizations. Validated measures included the Maslach Burnout Inventory-General Survey (an instrument measuring burnout on three subscales: exhaustion, cynicism, and professional efficacy) and the Occupational Stress Inventory-Revised (an instrument measuring occupational stress on 14 subscales). Of the 353 respondents, more than 40 % had either considered leaving or left their job role due to burnout. Multiple regression analysis yielded significant predictors for burnout risk. The identified sets of predictors account for approximately 59 % of the variance in exhaustion, 58 % of the variance in cynicism, and 43 % of the variance in professional efficacy. Our data confirm that a significant number of genetic counselors experience burnout and that burnout is correlated with specific aspects of occupational stress. Based on these findings, practice and research recommendations are presented.

Personality traits associated with genetic counselor compassion fatigue: the roles of dispositional optimism and locus of control.

Compassion fatigue (CMF) arises as a consequence of secondary exposure to distress and can be elevated in some health practitioners. Locus of control and dispositional optimism are aspects of personality known to influence coping style. To investigate whether these personality traits influence CMF risk, we surveyed 355 genetic counselors about their CMF, locus of control orientation, and degree of dispositional optimism. Approximately half of respondents reported they experience CMF; 26.6% had considered leaving their job due to CMF symptoms. Mixed-method analyses revealed that genetic counselors having an external locus of control and low optimism were at highest risk for CMF. Those at highest risk experienced moderate-to-high burnout, low-to-moderate compassion satisfaction, and tended to rely on religion/spirituality when coping with stress. CMF risk was not influenced by years in practice, number of genetic counselor colleagues in the workplace, or completion of graduate training in this area. Recommendations for practice and education are outlined.

Psychological responses to prenatal NTS counseling and the uptake of invasive testing in women of advanced maternal age.

This study examines women's psychological responses to prenatal group genetic counseling, and to subsequent individualized risk counseling. All women (N=123) aged 35 and older underwent nuchal translucency screening (NTS), a prenatal ultrasound screening test. After group counseling, decisional conflict decreased significantly among those reporting at baseline having made a decision about invasive testing (t(222)=2.0, P=0.014) and for those who were uncertain (t(222)=5.74, P <0.0005). After receiving NT-adjusted risks, decisional conflict decreased further for those uncertain about testing at baseline (t(222)=4.64, P <0.0005). There was no change in risk perception and anxiety after group counseling. After NT-adjusted risks were communicated, risk perception decreased significantly (t(230)=5.02, P <0.0005), as did anxiety (t(115)=7.91, P <0.005). Despite reassuring NTS results, the uptake rate for prenatal invasive testing was 78.4%. Risk perception, anxiety, and decisional conflict decreased after individual counseling for reassuring NTS results, but the uptake of invasive testing remained high.

The effects of prenatal group genetic counselling on knowledge, anxiety and decisional conflict: issues for nuchal translucency screening.

This study evaluates the effects of prenatal genetic group counselling on women's anxiety, decisional conflict and levels of knowledge. Participants (N=271) were aged 35 years and older. ANOVA results indicated that pre/postcounselling scores for anxiety did not change significantly, while decisional conflict decreased significantly (P<0.001). Pre/postcounselling scores on two different knowledge measures were analysed using 2x3 mixed ANOVAs for time by highest level of education and by having discussed prenatal diagnosis with one's health care provider. No potential interactions were statistically significant; time alone had a strong significant effect for both knowledge measures (P<0.01); P<0.01, respectively), suggesting that the effects of the counselling intervention were robust. Group genetic counselling is an effective method for education and decision support in the prenatal context, and may serve as a model for other clinical populations facing genetic screening decisions.